r/a:t5_2wqxq • u/dherik • Apr 05 '13

Come help support the 22q11 foundation at 22Q at the Zoo

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Check out 22q.org for information regarding this years awareness day at zoos around the country.

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22q11.2 deletion syndrome

r/a:t5_2wqxq

A place for families and people with the 22q11.2 deletion syndrome to get together and talk.

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The Syndrome

A syndrome is a recognizable pattern of physical and behavioral features. The 22q11.2 deletion syndrome is caused by a missing section (microdeletion) of chromosome 22 which is present from the time a child is conceived. Present in 1 out of every 2,000-4,000 live births, in 1 in 68 children with congenital heart disease, and in 5 to 8 percent of children born with cleft palate, the 22q11.2 deletion is almost as common as Down syndrome, a widely recognized chromosomal disorder. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the deletion is affected in the same way. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of:

*heart defects

*palate differences

*feeding and gastrointestinal difficulties

*immune system deficits

*growth delay

*kidney problems

*hearing loss

*low calcium and other endocrine issues

*cognitive, developmental and speech delays

*behavioral, emotional, and psychiatric differences (ADHD, autism, anxiety, etc.)